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Cellosaurus GM12813 (CVCL_9623)

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Cell line name GM12813
Accession CVCL_9623
Resource Identification Initiative To cite this cell line use: GM12813 (RRID:CVCL_9623)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: ENCODE project common cell types; tier 3.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 145413.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CAGE-seq analysis.
Omics: H3K27ac ChIP-seq epigenome analysis.
Omics: H3K4me1 ChIP-seq epigenome analysis.
Omics: H3K4me3 ChIP-seq epigenome analysis.
Omics: PU.1 ChIP-seq epigenome analysis.
Omics: RPB2 ChIP-seq epigenome analysis.
Omics: CNV analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (Coriell=GM12813).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12813_Stam_protocol.pdf
https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589
Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions.
Genome Res. 19:1953-1962(2009)

PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002
Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G., Spielman R.S.
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
Am. J. Hum. Genet. 86:719-729(2010)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

PubMed=24037378; DOI=10.1038/nature12531; PMCID=PMC3918453
Lappalainen T., Sammeth M., Friedlander M.R., 't Hoen P.A.C., Monlong J., Rivas M.A., Gonzalez-Porta M., Kurbatova N., Griebel T., Ferreira P.G., Barann M., Wieland T., Greger L., van Iterson M., Almlof J.C., Ribeca P., Pulyakhina I., Esser D., Giger T., Tikhonov A., Sultan M., Bertier G., MacArthur D.G., Lek M., Lizano E., Buermans H.P.J., Padioleau I., Schwarzmayr T., Karlberg O., Ongen H., Kilpinen H., Beltran S., Gut M., Kahlem K., Amstislavskiy V., Stegle O., Pirinen M., Montgomery S.B., Donnelly P., McCarthy M.I., Flicek P., Strom T.-M., Lehrach H., Schreiber S., Sudbrak R., Carracedo A., Antonarakis S.E., Hasler R., Syvanen A.-C., van Ommen G.-J.B., Brazma A., Meitinger T., Rosenstiel P., Guigo R., Gut I.G., Estivill X., Dermitzakis E.T.
Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature 501:506-511(2013)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

PubMed=27617755; DOI=10.1038/srep32406; PMCID=PMC5019111
Ferreira P.G., Oti M., Barann M., Wieland T., Ezquina S., Friedlander M.R., Rivas M.A., Esteve-Codina A., Rosenstiel P., Strom T.-M., Lappalainen T., Guigo R., Sammeth M.
Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
Sci. Rep. 6:32406-32406(2016)

PubMed=29116076; DOI=10.1038/s41467-017-01467-7; PMCID=PMC5677018
Garieri M., Delaneau O., Santoni F.A., Fish R.J., Mull D., Carninci P., Dermitzakis E.T., Antonarakis S.E., Fort A.
The effect of genetic variation on promoter usage and enhancer activity.
Nat. Commun. 8:1358.1-1358.9(2017)

PubMed=31048460; DOI=10.1126/science.aat8266
Delaneau O., Zazhytska M., Borel C., Giannuzzi G., Rey G., Howald C., Kumar S., Ongen H., Popadin K.Y., Marbach D., Ambrosini G., Bielser D., Hacker D.L., Romano L., Ribaux P., Wiederkehr M., Falconnet E., Bucher P., Bergmann S., Antonarakis S.E., Reymond A., Dermitzakis E.T.
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Science 364:eaat8266.1-eaat8266.10(2019)

Cross-references
Cell line collections (Providers) Coriell; GM12813
Cell line databases/resources CLO; CLO_0022588
Biological sample resources BioSample; SAMN00801770
ENCODE; ENCBS201AAA
ENCODE; ENCBS202AAA
ENCODE; ENCBS203AAA
ENCODE; ENCBS204AAA
ENCODE; ENCBS205AAA
ENCODE; ENCBS206AAA
ENCODE; ENCBS207AAA
IGSR; NA12813
Encyclopedic resources Wikidata; Q54846083
Experimental variables resources EFO; EFO_0001156
Gene expression databases ArrayExpress; E-GEUV-1
ArrayExpress; E-GEUV-2
ArrayExpress; E-GEUV-3
ArrayExpress; E-MTAB-3656
ArrayExpress; E-MTAB-3657
ArrayExpress; E-MTAB-5835
GEO; GSM25658
GEO; GSM25659
GEO; GSM112559
GEO; GSM112862
GEO; GSM188837
GEO; GSM207786
GEO; GSM273356
GEO; GSM273357
GEO; GSM291688
GEO; GSM315001
GEO; GSM315002
GEO; GSM421017
GEO; GSM421018
GEO; GSM424355
GEO; GSM486841
GEO; GSM486842
GEO; GSM648861
GEO; GSM659992
GEO; GSM660198
GEO; GSM660403
GEO; GSM905894
GEO; GSM905989
GEO; GSM906084
GEO; GSM923450
GEO; GSM957391
GEO; GSM1719823
Entry history
Entry creation06-Jun-2012
Last entry update30-Jan-2024
Version number28